Variant report

Variant	rs5998927
Chromosome Location	chr22:33796707-33796708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33789978..33792098-chr22:33794804..33797687,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12159735	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12159755	1.00[AFR][1000 genomes]
rs12160463	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5994726	0.89[AFR][1000 genomes]
rs5994727	1.00[AFR][1000 genomes]
rs5994728	1.00[AFR][1000 genomes]
rs5994733	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5994734	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5994735	1.00[AFR][1000 genomes]
rs5998908	1.00[YRI][hapmap]
rs5998909	1.00[AFR][1000 genomes]
rs5998910	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998913	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998914	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998915	1.00[AFR][1000 genomes]
rs5998918	1.00[AFR][1000 genomes]
rs5998919	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998920	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998921	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998922	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs5998923	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998924	1.00[AFR][1000 genomes]
rs5998926	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998928	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs5998929	1.00[AFR][1000 genomes]
rs5998930	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
14	esv1840336	chr22:33780897-33798116	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1058261	chr22:33793423-33823308	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
6	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
7	chr22:33778800-33796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:33779000-33800000	Weak transcription	Fetal Intestine Small	intestine
10	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:33780200-33802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:33780600-33796800	Weak transcription	Left Ventricle	heart
13	chr22:33780600-33805200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:33780600-33834000	Weak transcription	Gastric	stomach
15	chr22:33780800-33823000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:33781200-33814800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr22:33789800-33798200	Weak transcription	Ovary	ovary
18	chr22:33789800-33800400	Weak transcription	Psoas Muscle	Psoas
19	chr22:33790200-33800400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:33790600-33798600	Weak transcription	Liver	Liver
21	chr22:33790800-33797800	Weak transcription	HepG2	liver
22	chr22:33791400-33801000	Weak transcription	HSMM	muscle
23	chr22:33792800-33811000	Weak transcription	Aorta	Aorta
24	chr22:33795000-33801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:33795200-33797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:33795800-33797400	Enhancers	Fetal Heart	heart
27	chr22:33796200-33797400	Strong transcription	Fetal Stomach	stomach
28	chr22:33796400-33798000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:33796600-33796800	Genic enhancers	Right Ventricle	heart
30	chr22:33796600-33797000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr22:33796600-33797000	Enhancers	Fetal Kidney	kidney
32	chr22:33796600-33797000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
33	chr22:33796600-33797400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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